Search Ontology:
Human Disease
syndromic X-linked intellectual disability 5
- Term ID
- DOID:0060800
- Synonyms
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- Fried syndrome
- Mental retardation, X-linked syndromic 5
- MRX59
- MRXS21
- Pettigrew syndrome
- syndromic X-linked mental retardation 21
- syndromic X-linked mental retardation Fried type
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
- X-linked mental retardation 59
- X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures
- Definition
- A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. (2)
- References
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- MESH:C535773
- MIM:304340
- NCI:C124839
- ORDO:1568
- ORDO:85335
- SNOMEDCT_US_2023_03_01:719139003
- UMLS_CUI:C0796254
- Ontology
- Human Disease ( DOID:0060800 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models